The UMD-APC mutations database
Record ID: 5689

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1957A>Tp.Arg653Trp

wt codonwt aamutant codonmutant aamutational eventmutation type
AGGArgTGGTrpA->TTv

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM5 Yes, non coding strandNo

Mutation impact


At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

Conservation (0-1)SIFT (0-1)UMD-predictor (0-100)
0.940.00 (pathogenous)94 (Pathogenous)

Patient and sample data


Sample IDPatient status
7_-6206ILP0711078E071213Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data